SLX1A
Chr 16structure-specific endonuclease subunit SLX1A
Also known as: GIYD1
The SLX1A protein serves as the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures during DNA repair and recombination by cleaving branched DNA substrates and Holliday junctions. Pathogenic variants in SLX1A cause autosomal recessive microcephaly, growth retardation, and retinal degeneration. This gene shows tolerance to loss-of-function variants with relatively low constraint scores.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SLX1A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools